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  • tuberous sclerosis
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CTX cefotaxime; cerebrotendinous xanthomatosis; chemotaxis; clinical trials exemption scheme; costotendi...
Xanth xanthomatosis
TS   1) Tricuspid Stenosis
  2) Tuberous Sclerosis
    = ...
TS Takayasu syndrome; Tay-Sachs; temperature sensitivity; temperature, skin; temporal stem; tensile str...
TSC technetium sulfur colloid; thiosemicarbazide; transverse spinal sclerosis; tuberous sclerosis
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CTX Cerebrotendinous Xanthomatosis
TS Tuberous Sclerosis
TSc Tuberous Sclerosis
Tsc2 Tuberous sclerosis 2
TSC Tuberous sclerosis complex
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skin lesions of tuberous sclerosis <radiology> Adenoma sebaceum, Shagreen patches, periungual fibromata, ash-leaf hypopigmentation
(12 Dec 1998)
tuberous <botany> Swollen, of roots, tuber-like.
(09 Oct 1997)
tuberous root A root that is swollen for food storage; tuberous primary root's occur in aconite, beet, and carrot; tuberous secondary root's occur in plants of the Umbelliferae; and tuberous adventitious roots occur in jalap and sweet potato.
(05 Mar 2000)
tuberous sclerosis <radiology> (Bourneville disease) autosomal dominant phakomatosis classic triad: seizures, retardation, adenoma sebaceum, calcified subependymal hamartomas, uncalcified tubers in cerebral cortex, enhancing lesion most likely to be malignant transformation to giant cell astrocytoma associated with: skin lesions, angiomyolipoma, increased risk of renal cell carcinoma
(12 Dec 1998)
biliary xanthomatosis Xanthomatosis with hypercholesterolaemia, resulting from biliary cirrhosis.
Synonym: Rayer's disease.
(05 Mar 2000)
cerebrotendinous xanthomatosis A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis.
Synonym: cerebrotendinous cholesterinosis.
(05 Mar 2000)
chronic idiopathic xanthomatosis Vague or indefinite term for inherited abnormalities of lipid metabolism leading to xanthoma formation (e.g., primary familial xanthomatosis).
(05 Mar 2000)
Wolman's xanthomatosis A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase. It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). It is an allelic variant of wolman disease.
(12 Dec 1998)
xanthomatosis <dermatology, pathology> An accumulation of an excess of lipids in the body due to disturbance of lipid metabolism and marked by the formation of foam cells in skin lesions.
(16 Dec 1997)
xanthomatosis bulbi Ulcerative fatty degeneration of the cornea after injury.
(05 Mar 2000)
xanthomatosis, cerebrotendinous A lipid storage disease, inherited as an autosomal recessive trait, characterised by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol.
(12 Dec 1998)
normal cholesteraemic xanthomatosis histiocytosis
familial hypercholesteraemic xanthomatosis Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle age, but homozygotes have severe changes often with generalised xanthomatosis and xanthelasma, and frank clinical atherosclerosis as young adults. The primary defect is a deficiency of apoprotein of VLDL, and the disorder is divided into two classes: 1) type IIA, which has elevated LDL due to a deficiency of the receptor or a modified apolipoprotein B-100; 2) type IIB, which has elevated LDL and triglycerides; autosomal dominant inheritance.
Synonym: familial hyperbetalipoproteinaemia, familial hypercholesteraemic xanthomatosis, familial hypercholesterolaemia.
(05 Mar 2000)
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